tooluniverse-variant-functional-annotation

Comprehensive functional annotation of protein variants — pathogenicity, population frequency, structural context, and clinical significance. Integrates ProtVar (map_variant, get_function, get_population) for protein-level mapping and structural context, ClinVar for clinical classifications, gnomAD for population frequency with ancestry data, CADD for deleteriousness scores, and ClinGen for gene-disease validity. Produces a structured variant annotation report with evidence grading. Use when asked about protein variant impact, missense variant pathogenicity, ProtVar annotation, variant functional context, or combining population and structural evidence for a variant.